AUTISM AND ADENYLOSUCCINASE DEFICIENCY

Abstract

Adenylosuccinase deficiency (ASD) is an autosomal recessive inborn error of metabolism ( Jaeken and Van den Berghe, 1984 Jaeken J Van den Berghe G An infantile autistic syndrome characterized by the presence of succinylpurines in body fluids. Lancet. 1984; 2: 1058-1061 PubMed Google Scholar ). A genetic defect of de novo purine and AMP synthesis, the disease leads to an intracellar accumulation of succinylaminoimidazole carboxamide (SAICA) ribotide and adenylosuccinate. These compounds are dephosphorylated to SAICA riboside and succinyladenosine, which can be detected in excess in the urine. The disease may be screened using the Bratton-Marshall test ( Bratton and Marshall, 1939 Bratton AC Marshall AK A new coupling agent for sulfanilamide determination. J Biol Chem. 1939; 128: 537-550 Google Scholar ). Children with ASD usually present with severe developmental delay, seizures, and growth and psychomotor retardation. About 50% of children show autistic-like behavior ( Jaeken and Van den Berghe, 1984 Jaeken J Van den Berghe G An infantile autistic syndrome characterized by the presence of succinylpurines in body fluids. Lancet. 1984; 2: 1058-1061 PubMed Google Scholar ; Maddocks and Reed, 1989 Maddocks J Reed T Urine test for adenylosuccinase deficiency in autistic children (letter). Lancet. 1989; 1: 158-159 Abstract PubMed Scopus (18) Google Scholar ; Stone et al., 1992 Stone RL Aimi J Barshop BA et al. A mutation of adenylosuccinate lyase associated with mental retardation and autistic features. Nat Genet. 1992; 1: 59-63 Crossref PubMed Scopus (105) Google Scholar ).